Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.A192T

G6PC1

382 papers

RefSeq Summary

Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and gluc...

Pfam Domains

PAP2aa 57–204UCSCPAP2 superfamily

Gene Aliases

HGNC Name

glucose-6-phosphatase catalytic subunit 1

HGNC Previous Symbol

G6PT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000151.4
p.A192T
c.574G>A
Surrounding Variants
2 papers
NM_000151.4
p.A192V
c.575C>T
1 paper
NM_000151.4
p.E193Q
c.577G>C
1 paper
NM_000151.4
p.I189M
c.567T>G
2 papers
NM_000151.4
p.G188D
c.563G>A
2 papers
NM_000151.4
p.G188A
c.563G>C
1 paper
NM_000151.4
p.G188V
c.563G>T
5 papers
NM_000151.4
p.G188Splc
c.563-3C>G
2 papers
NM_000151.4
p.S196S
c.588C>T
1 paper
NM_000151.4
p.I198delFs
c.592_593delAT
1 paper
NM_000151.4
p.I198fs
c.592_593fs
1 paper
NM_000151.4
p.H199N
c.595C>A
1 paper
NM_000151.4
p.H199R
c.596A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."